Genetic Testing for Familial ALS
On January 17, 2023, my life changed.
There’s a lot of context to give to my genetic test. You should read these before continuing:
Genetic Test #
My family’s Familial ALS can be attributed to the c9orf72 gene. There was a 50% chance that I inherited c9orf72 from my mother.
In 2016 I sought consultation about a genetic test. I ultimately declined to be tested because of my mother’s illness. Mom was an ALS patient at the time, and that was more than enough for our family to have on their plate.
In 2022 I went to another genetic test consultation, and at 39 years old, I chose to get tested for familial ALS. It was a difficult decision. After losing so many family members in such a short period of time I decided I had to know if ALS was in my future. In particular, my uncle’s age 55 diagnosis weighed heavily on my mind: how much “quality” life time did I have left? What would it mean for my family if I will have ALS?
Genetic Testing Side Quests #
Preparing for a genetic test is not just an emotional journey but also one full of unexpected logistical challenges.
Aside from the emotional toll that comes with a genetic test like this, preparation for the test required a lot more than I expected.
Things that surprised me along the way:
- This genetic test required counseling about genetic tests before actually having the test.
- You have to provide a family member’s genetic test results before receiving counseling. I had to ask for Mom’s test results twice. It was difficult for me to ask Dad for Mom’s test results while she was still ill.
- Family members can/will vehemently disagree with your choice to get a genetic test. The decision to undergo genetic testing is a personal choice and people will disagree. The extent of the disagreements surprised me.
- You need to get your own private insurance. Life insurance. Long term care insurance. Disability insurance. In the US, there’s Genetic Information Nondiscrimination Act which makes genetic information discrimination illegal for health insurance, but not other types of insurance. Employer provided insurance goes away if you change jobs. If you do find out you’ll have ALS from a genetic test, you cannot legally lie about it if you’re applying for several types of insurance policies. Insurers can hike your rates or deny coverage based on this information. This was a expensive and collosal pain in the ass.
The Actual Test #
Blood Draw #
The test for c9orf72 is a blood test. In December 2022 I went to the University of Washington’s Genetic Medicine Clinic to have blood drawn for the genetic test. There was some sort of logistical issue that morning, and they weren’t able to draw blood at that clinic. We had to walk to another location. The walk felt like forever away.
I got to a room and the staff member with me proceeds to stick me with a needle to draw blood. No blood. She tries again. Some doubt is creeping in. I remember thinking, “Do I really want to go forward with this?”. She asks me if she can stick me again. I said yes. Still no blood. Doubt intensified. She asked me again to draw blood, and I said yes. She still can’t get blood.
I was transferred to Husky Health Blood Draw and where the staff member successfully drew blood on her first try. I was relieved. I remember thinking, “Now we wait.”
Test Results #
It may have been due to the holidays, we were told we wouldn’t get results quickly. My blood was drawn on December 16 and we got the results January 17. I restarted the process on July 18 2022 and got the results January 17 2023.
The test results in: I will not develop familial ALS. I don’t carry the gene! We were so relieved. From my patient portal:
…genetic testing results were NEGATIVE/NORMAL, he did not inherit the expanded C9orf72 copy from his mother and is not at risk to develop the associated phenotype.
Test: C9orf72 Gene Hexanucleotide Repeat Expansion
Performed at Prevention Genetics, PG ID#: <removed>
Results:
Allele 1: 2 GGGGCC repeats, normal
Allele 2: 5 GGGGCC repeats, normal
I remember the doctors sitting L and I down and telling us they were thrilled to give us good news so early in the morning. We both had a good hug and cry. Before we had the test results, I was convinced I was going to have ALS and not live past age 57. The test results definitively said that’s not going to happen.
We came home and listened to two of my favorite performances from one of my favorite concerts: Dave Matthews Band at Rothbury 2008. So Damn Lucky and Sledgehammer.
After getting the results, I cancelled a few types of private insurance that I no longer needed to keep.
Coda #
Every year we take some time to celebrate my test results. It’s not lost on me just how little control I had on the outcome, how easily it could have been a different result, and how many people don’t get favorable results. This section of the page is for me to add annual updates.
- (2025) We got out of the city and went to Bellingham, WA for the first time. This year I’m feeling a need to tell more people about my story. My journey with ALS has shaped so much of my outlook on life. I’m publishing this (and other) ALS content online to share that part of myself with others.